1/65. color Doppler sonography in the diagnosis of neonatal intrahepatic portosystemic shunts.Intrahepatic portosystemic shunts are infrequent in children. We report 3 cases of neonates who presented with jaundice during the first month of life. color Doppler sonography in the first 2 cases showed direct communication between the right portal and hepatic veins. Both infants were asymptomatic, and the shunts disappeared spontaneously. The third case involved several shunts and an aberrant medial portal vein. This patient developed heart failure and died after surgery. color Doppler sonography was useful in the diagnosis and follow-up of the shunts in all 3 cases.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
2/65. 'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ.A patient with neonatal jaundice and cirrhosis who was previously reported homozygous for the Durate variant of galactose-1-phosphate uridyl transferase has the ZZ genotype for alpha1-antitrypsin. A sister of the patient, also with ZZ genotype, is less severly affected with liver disease and is a heterozygote for the Durate variant. Since a number of patients with ZZ genotype of alpha1-antitrypsin have been previously reported to have liver disease, the latter genotype is the more probable explanation for the patients' clinical state. A question is raised, however, whether the Duarte variant may be specifically associated with the development of liver disease in ZZ individuals.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
3/65. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. adult-onset type II citrullinemia may be associated with infantile cholestatic disease.- - - - - - - - - - ranking = 5keywords = jaundice (Clic here for more details about this article) |
4/65. biliary atresia and the Dandy-Walker anomaly in a neonate with 45,X Turner's syndrome.A case is described of a neonate with Turner's syndrome (45,X) whose clinical course was complicated by jaundice. autopsy findings included intraphepatic biliary atresia, coarctation of the aorta of the infantile type, and the dandy-walker syndrome.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
5/65. Extraordinary hyperbilirubinemia in a neonate with idiopathic hypertrophic pyloric stenosis.This case describes an extraordinarily elevated total bilirubin level that reverted to normal 9 1/2 wk after Fredet-Ramstedt pyloromyotomy. Although the etiology of jaundice occurring in patients with IHPS remains uncertain, theories implicating inhibition of the glucuronyl transferase system have been proposed. Infants with IHPS have a documented hypergastrinemia. An hypothesis is offered, illustrated by this case, to explain the inhibition of the glucuronyl transferase system with resultant hyperbilirubinemia by the hypergastrinemia of idiopathic hypertrophic pyloric stenosis.- - - - - - - - - - ranking = 1.0002577916909keywords = jaundice, idiopathic (Clic here for more details about this article) |
6/65. Low glucose-6-phosphate dehydrogenase enzyme activity level at the time of hemolysis in a male neonate with the African type of deficiency.glucose-6-phosphate dehydrogenase (G6PD) levels are not usually drawn in the evaluation of black neonates with hyperbilirubinemia because of the oft-stated opinion that the levels may be normal at the time of hemolysis and thus will be misleading. In fact, this opinion is not applicable to newborns as many studies have shown that deficiency in the conjugating ability of the liver, not hemolysis, is the main cause of neonatal jaundice associated with G6PD deficiency. We present a case report of a neonate with brisk hemolysis and hyperbilirubinemia in whom the G6PD level was abnormally low at the time of the hemolytic episode. dna analysis showed him to have the A-(202A,376G) variant and, as well, the UGT1A1 promoter repeat polymorphism associated with Gilbert's disease. This case, as well as a review of the literature, indicates that enzyme levels are not normal in patients with G6PD A- who are undergoing hemolysis.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
7/65. In utero development of a warm-reactive autoantibody in a severely jaundiced neonate.BACKGROUND: The fetus and neonate are widely considered to be immunologically immature. However, there are rare case reports of RBC alloantibody and autoantibody development. STUDY DESIGN AND methods: This report describes the case of a severely jaundiced full-term boy neonate presenting at birth with an IgG warm-reactive autoantibody. RESULTS: Mother and neonate were both blood group A, D . The mother had a negative antibody screen at 18 weeks' gestation and a negative DAT and antibody screen at the time of delivery. The neonate was born with a strongly reactive DAT (IgG) and a panreactive eluate. The serum also contained a panreactive antibody, and all crossmatches were incompatible. The neonate had a bilirubin of 12.5 mg per dL at birth, which peaked at 22.5 mg per dL. However, there was no overt evidence of hemolysis, as evidenced by normal serial Hct levels and reticulocyte counts. The neonate responded well to phototherapy and did not require either simple or exchange transfusion. The neonate's warm-reactive autoantibody maintained its original strength of reactivity on follow-up testing performed at 2 weeks and 2 months of age. CONCLUSIONS: This report describes a rare case of apparent in utero RBC autoantibody development. The fetal/neonatal immune response to blood group antigens is reviewed.- - - - - - - - - - ranking = 5keywords = jaundice (Clic here for more details about this article) |
8/65. glucose-6-phosphate dehydrogenase variants from Italian subjects associated with severe neonatal jaundice.Screening for the G6PD deficiency was carried out at the Maternity Division of the Galliera Hospital in Genoa, italy. Two groups of subjects with hyperbilirubinaemia of non-immunological origin were examined: (a) 302 newborn babies of Sardinian extraction (on cord blood) and (b) 201 newborn babies of south Italian ancestry (on peripheral blood). Among 503 subjects, 43 showed an enzyme deficiency; in 39 the defect was of the Mediterranean type. In one case, previously described, the enzyme was of the A- type. In the remaining cases three different variants were identified. In the present work these three cases, each with severe neonatal jaundice, are reported. Their parents originated from Calabria, from Sardinia and from sicily. The abnormal enzymes are respectively designated as GdDcbrousse-like,, GdGallura and GdAgrigento.- - - - - - - - - - ranking = 5keywords = jaundice (Clic here for more details about this article) |
9/65. Congenital oligodendroglioma with initial manifestation of jaundice.Neonatal brain tumor is a rare clinical entity. The initial presentation in affected newborn infants is often subtle, nonspecific, and rarely includes focal neurologic signs. We report a 2-day-old male infant with congenital oligodendroglioma with initial manifestations of hyperbilirubinemia. phototherapy was started immediately after admission. Because of a tense anterior fontanel and irritable crying, head ultrasonography, computed tomography, and magnetic resonance imaging were performed and revealed a heterogenous brain tumor in the left temporoparietal lobe. craniotomy and tumor evacuation was performed, and WHO grade III anaplastic oligodendroglioma was confirmed by the pathologic studies. The patient was discharged 3 weeks later, and outpatient follow-up examination revealed a normally developed infant at 6 months of age. The cause of jaundice was thought to be secondary to tumor hemorrhage, which was not infrequent in neonatal brain tumor.- - - - - - - - - - ranking = 5keywords = jaundice (Clic here for more details about this article) |
10/65. The "bronze baby" syndrome: postmortem data.The case history and autopsy findings of an infant with the "bronze baby" syndrome are presented. These findings substantiate that kernicterus occurs in term infants receiving phototherapy for concentrations of serum indirect bilirubin below 20 mg/dl. The findings at autopsy suggest that the photodecomposed pigmented products of bilirubin are unable to pass the blood-brain barrier. The need for establishing the cause of jaundice prior to initiation of phototherapy is stressed.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
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